Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000627319 | SCV000748311 | pathogenic | not provided | 2023-09-29 | criteria provided, single submitter | clinical testing | Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 31345219, 33867250, 29209020) |
Institute of Human Genetics, |
RCV000656346 | SCV001439963 | pathogenic | PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome | 2019-01-01 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV000656346 | SCV003835358 | likely pathogenic | PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome | 2022-08-04 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000656346 | SCV000778319 | pathogenic | PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome | 2019-12-02 | no assertion criteria provided | literature only |